Variant report

Variant	rs35624171
Chromosome Location	chr12:29792803-29792804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17678468	1.00[AFR][1000 genomes]
rs61922607	1.00[AFR][1000 genomes]
rs73077481	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv870004	chr12:29762415-29825798	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29763800-29793600	Weak transcription	Right Ventricle	heart
2	chr12:29765600-29802600	Weak transcription	Psoas Muscle	Psoas
3	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
4	chr12:29778800-29795000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:29781800-29793600	Weak transcription	Aorta	Aorta
6	chr12:29782000-29793800	Weak transcription	Fetal Stomach	stomach
7	chr12:29782600-29793800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:29785400-29816000	Weak transcription	Esophagus	oesophagus
9	chr12:29786200-29793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:29786200-29793000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:29786400-29793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:29786400-29803200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:29787000-29793800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:29787800-29793200	Weak transcription	HSMM	muscle
15	chr12:29787800-29793600	Weak transcription	HMEC	breast
16	chr12:29788000-29793000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:29788000-29793600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:29788000-29793800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:29788400-29793000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:29788400-29793600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:29788400-29793600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:29788400-29793800	Weak transcription	Fetal Heart	heart
23	chr12:29789000-29793000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:29789000-29793600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:29790200-29793800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:29791000-29793800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:29791200-29793000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr12:29791400-29793000	Weak transcription	Left Ventricle	heart
29	chr12:29791400-29793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:29791400-29793600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:29791800-29793000	Enhancers	Hela-S3	cervix
32	chr12:29791800-29793600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:29791800-29794400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:29792000-29793200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:29792000-29793200	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:29792000-29793200	Weak transcription	Right Atrium	heart
37	chr12:29792000-29793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:29792000-29793800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:29792000-29820800	Weak transcription	Spleen	Spleen
40	chr12:29792200-29793000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:29792200-29793200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:29792200-29793400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:29792400-29793000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:29792600-29793400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:29792800-29793000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:29792800-29793000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:29792800-29793200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:29792800-29793200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:29792800-29793400	Strong transcription	NHLF	lung
50	chr12:29792800-29793600	Weak transcription	Colon Smooth Muscle	Colon

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